Genetic Sequencing is like peeling a banana, but a thousand times

Sanvi Rao
10 min readNov 21, 2020

After hours of an agonizing labour, a woman finally gives birth to her child. Unfortunately, her delivery left her in a ton of pain. So, the doctor prescribed her with some medications, which helps just a bit, but still makes her feel tired and sick. A few weeks later, she also notices that her newborn child is not breastfeeding as well. Once again, she has a trip to the doctor. The doctor advises the mother to store breastmilk and freeze it.

Fast forward a couple of days, the mother walks past her child, but he appears to be pale and he’s not breathing.

The mother sobs as she explains her tragedy to the authorities. An autopsy is done, and thankfully the culprit was caught. The cause of death is an overdose of codeine This was a popular case study in 2006, and was studied very careful. Numerous breastfeeding mothers have a healthy babies, but in this scenario, the outcome is different. Why?

A person always had specific factors that would react to medicine. A certain medicine isn’t meant for everyone. For instance, how fast medicine is broken down, metabolism, or genetic coding, all contribute to treatment effects. What works for one person may have a different effect for someone else.

An effective medication, only works, based on how adaptable your body is to it. The real question is — is medicine really safe? Of course it is! But only for someone of us. But in some cases, medicine isn’t as effective. A new emerging approach to medical treatments is… precision medicine.

Precision medicine is customized medicine made based on factors like genetics. Some of us can relate to that one day, where we were sick all day. A couple of years ago, I was sick for almost 2 days.

Did I take any medicine? Yes, I did.

Did it work? Nope. Not at all

What we need now, isn’t medicine that just works. But we need medicine that will fix the problem, with the best solution. It would obviously, be better to have medicine that can save lives, than medicine that has very little to no effect. Precision medicine is the new era of medicine, that can help save much more people, with a treatment 10x better.

Precision medicine has many components: Pharmacogenomics, biobankers or biomakers. But without genomics, and our understanding of genes precision medicine will literally be impossible.

Based on genetic information, precision medicine is created. A common question of precision medicine is, what about money? Isn’t it going to be expensive to create medicine from each and every person?

Well, medicine isn’t going to be made “just for you”. In fact, thousands (or more) people have similar genetic information. Precision medicine can save billions of lives, and improve medical treatments.

The journey of precision medicine all starts with genomics. Genes are the micro-codes stored in cells. Just how a human has a body, and organs inside of it, similarly a cell would be a “body” and the cell organelles would be the “organs”.

Some of the most important cell organelles are: mitochondria, nucleus, and ribosomes. The mitochondria emits ATP which are energy molecules, providing energy from every cell activities. The ribosomes are the soon to be proteins. On the other hand, the nucleus, is the brain of the cell, that controls the cell activity.

Once upon a time, there was the nucleus 🧠

The nucleus may just seem like a place where instructions are just sent out. Actually, the process is quite complex. The very first thing that you’ll “see” are chromosomes. In total, there are 46 chromosomes, (in pairs → 23 pairs of chromosomes), half are from each parent.

There are 22 chromosomes, called autosomes, and one pair of sex chromosomes.

2 X chromosomes → female

X + Y chromsomes → male

Chromosomes are structured in tiny x’s. Chromosomes are made of genetic material, DNA that wraps around histones, and forms the structure of chromosomes.

This probably isn’t your first time hearing about DNA. But quick overivew, DNA is the data that builds us. Information that determines who we are. DNA is made of 3 compounds:

  • Phosphate Group
  • Sugar Group
  • 1 of 4 Nitrogenous Bases: Adenine, Cytosine, Thymine, Guanine

Adenine only connects with Thymine, while Cytosine links to Guanine. DNA has 2 strands connected together by nitrogenous bases, while the sugar and phosphate group act as the backbone. The order of nitrogenous bases that are linked together, they create a pattern. This “pattern” is a code, and if you run this code it builds a functional cell. A small part of this DNA strand is called polynucleotides. Whatever nitrogenous base will be on one side, the opposite base will be on the other side.

Example:

Leading Strand: ATCAGTA

Lagging Strand: TAGTCAT

Now, understanding the order of bases isn’t something done by a naked eye. Researchers & scientists use technology, like high-tech microscopes, to determine its sequence. The process of determining genetics nucleic acid sequence, is called genetic sequencing (finally hear a word you recognize?🤔)

Genetic sequencing helps us identify the patterns within our DNA. DNA determines everything in our body. The problems we have, how our body works, and much more. Genetic sequencing builds a better understanding of our genetic coding.

This is kind of cool! Like people have actually developed technology to zoom into our tiny cells, and perceive a small strand, with even smaller base patterns. Genetic sequencing can be applied to so many things. For instance, precision medicine. In order to create treatments (“specifically made for a patient”), you’ll probably need the best understanding of that patient → genomics.

A small piece of matter, which can give such a big impact to healthcare.

Before making our big pot of soup (medicine), we’re gonna need some ingredients. The ingredients, would be choosing what substances & materials would be the best use for this problem. But we would also need to do a bit of research too. That’s where pharmacogenomics, biobankers, and all the other good stuff would come in. Research includes, study of how medicine would effect a person (based off DNA), substances that can be measured (blood pressure, etc.), and other factors. The base of precision medicine is genomics.

I know right! Quite fascinating!

But at the end of the day, we always come to the question — how much does it cost?

“Uhh it’s to expensive.”

“no, it’s not going to happen”

Yeah, I hear you. Whenever, walking into a new technology, we often come to a barrier of money & cost. But, when it comes to precision medicine, it’s surprisingly cost efficient. Whatever, mistakes are made in healthcare, like inconvenient treatments, can be removed and replaced by precision medicine. In fact, this method would be saving a ton of money🤑.

Precision medicine helps to cut out, delays, wasting money, and saves so much more time. The more accurate a medication is, the smaller the cost.

Precision medicine = cheaper

Wanna hear another good news? The price of genomic sequencing is going down!!

Cost of genetic sequencing:

10 years ago → $1 billion

5 years ago → $10 000

Today → $1 000

Who knows? Maybe one day, the price will go as low as $100.

With personalized medicine & genomics, it can revolutionize healthcares, and change it into something much more advance. It’s a shot most health organizations are willing to take. I mean, why wouldn’t they? It’s the future of medicine.

Is it really worth it to get your genes sequenced?

A couple of years ago, Barrack Obama invested more than $215 million USD dollars into precision medicine. Organization spend a lot of time, developing and improving this new approach to medicine. All with the help of gene sequencing! With the rapidly decreasing cost of genetic sequencing, it may be a great decision to help overcome diseases or illness, and build better understanding of it. There are many benefits of genetic sequencing, like deepening knowledge of biology, like cells and DNA.

Right now, we use this technology to solve one of the world’s most dangerous disease, cancer. genetic sequencing may not have cured cancer, but it has brought us more knowledge about the disease, than ever before. Companies and universities do tremendous research on genomics, and in my view, I believe that genetic sequencing may be one of our most powerful tools to unlock the door of diseases.

The long of chain of genetics⛓️ 🧬

“Why am I so short?!?!” — It’s genetics

“Uh-oh, I see grey hair” — Once again, genetics

“You get your stubbornness from your mother” — no, not really genetics

Apart from your character, you’re basically a duplicate or mix of your parents. Appearance and biological factors are connected with your parents. The long list of passing down genes, is called heredity.

The traits that determine who we are, are all stored inside chromosomes. When a bunch of genes work together to display a physical trait, we call this polygenic traits. Thousands, or even millions of genes show polygenic traits, and it’s used majority of the time (polygenic traits = many genes). Meanwhile, the opposite of that is, a single gene determining multiple traits, it’s called pleiotropic traits. (In very few cases, we have single genes can determine a single trait)

Like said before, traits are inherited by parents, but behind the scenes, it’s a bit different. In most animals, there are somatic cells, are they are diploid. Diploid cells are cells that consist of 2 sets of chromosomes, each from a parent. Sex cells are gametes and they are haploid, which have 1 set of chromosomes. But when we look into plants, they are just a bit different. Most plants have polyploid cells, which are cells that have more than 2 sets of chromosomes.

You’re grandfather, his grandfather, and all the way to the beginning of your family line had genes, that in you right now!

All that information is stored in the DNA. But what about cell division? How can your genetic information go from 1 to multiple 🧬→🧬🧬?

When cells divide (in a process called, mitosis), everything in our cells replicate.

Yeah, that’s right! Our cells can literally clone themselves.

The stages of mitosis:

  1. Prophase
  2. Metaphase
  3. Anaphase

(also a few stages in between, like telophase, cytokinesis, & pro-metaphase)

During this process, cells grow larger, replicate DNA and cell organelles, and clone themselves. But only if it was that “simple” when cloning a human body.

Prophase

Prophase is the first phase of mitosis. The process that separates the duplicated genetic material carried in the nucleus of a parent cell into two identical daughter cells. In prophase, the DNA, chromatin, and other organelles condenses. It grows larger, and extends in size. Chromatin becomes much more visible, since the mass enlargers, and begins to separate.

As DNA clones, they also contribute to chromosome replication. We call the replicated chromosome, the sister chromatids. The sister chromatids, are groups of replicated DNA, and are connect at a point called the centromere. A spindle, responsible for separating the sister chromatids into two cells, called mitotic, forms and begins its job. The following stage, pro-metaphase is a phase that occurs before the second phase.

Metaphase

Metaphase is the second phase of mitosis. The highlight of this process is the separation of duplicated genetic material contained in the nucleus of a parent cell into two daughter cells. During metaphase, the cell’s chromosomes align themselves in the middle of the cell. The chromosomes are relocated a brought to the centromere, are called sister chromatids.

During metaphase, forming proteins called kinetochores are built around the centromere. Long chains of proteins called, kinetochore microtubules wrap around the cell’s perimeter, and attached to the kinetochores. Then, the kinetochore microtubules pull the sister chromatids until they align on the cell’s equator, the equatorial plane. After certain checkpoints, the cell is ready to move to the next phase, anaphase.

Anaphase

Anaphase is the last phase of mitosis. This phase specifically, separates the duplicated genetic material contained in the nucleus of a parent cell, into two daughter cells.

The independent chromosomes are separated by a structure called the mitotic spindle. The mitotic spindle is made of many long proteins called microtubules. Anaphase ensures that each sister cell contains chromosomes and components to help sustain the cell.

If you haven’t noticed, genetic sequencing is the key to curing diseases. Genetic sequencing helps us understand what the problem is, hints, and a bunch of other information. One of main applications of genetic sequencing is precision medicine. With a ton of information of our genes, researchers are able to build targeted drugs, with a higher effect.

Have you peeled a banana before? It’s easy right. And so is genetic sequencing..kinda. We have a vast amount of data, just by identifying a couple of letters. For instance, a set or patterns of the 4 baes could determine what colour hair you have, eye colour, and what disease or problems. It can help to determine diseases or illnesses faster, and from there, hospitals can be much more proactive.

There are many benefits to genetic sequencing, this includes, cheaper & faster ways to building effective medicine, depth of knowledge, and it’s very convenient. Companies like, Illumina and Crispr Therapeutics are doing a lot of research into genetics & genome biology.

In short, genetic sequencing = better hospitals

So, peeling a banana is easy, right? Well, at least peeling ONE banana. But what if you have to peel a thousand. Easy, but just a lot of work! Same with genetic sequencing. One DNA strand is about 2 meters tall. And we have a trillion cells in our body. But scientists have found easier ways, and instead of sequencing every DNA, specific cells are chosen. Genetic sequencing is here right now, and guess what? It’s been rocking ever since!

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Sanvi Rao

Hey! I’m Sanvi. A 14 year old, who loves a challenge and is super passionate about learning the world’s biggest problems.